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KCNQ1 rabbit pAb

CAT: 0855-ES10032-01Size: 50 µLDry Ice: NoHazardous: No
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Background
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq
Description
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq,
UniProt
P51787
Swiss Prot
P51787
Reactivity
Human; Rat; Mouse
Immunogen
Synthesized peptide derived from human protein . at AA range: 350-430
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Concentration
1 mg/ml
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Molecular Weight
74kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
74kD
Fragment
IgG
Subcellular Location
Cell membrane ; Multi-pass membrane protein . Cytoplasmic vesicle membrane . Early endosome . Membrane raft . Endoplasmic reticulum . Basolateral cell membrane . Colocalized with KCNE3 at the plasma membrane (PubMed:10646604) . Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed:23529131) . Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed:24855057) . During the early stages of epithelial cell polarization induced by the calcium switch it removed from plasma membrane to the endoplasmic reticulum where it retained and it is redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage (PubMed:21228319) . .
Gene ID (Human)
3784

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